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28 Possible Causes for Mutation in the Uroporphyrinogen Decarboxylase Gene, Progressive Peripapillary Chorioretinal Atrophy

  • Porphyria Cutanea Tarda

    Bilateral, geographic, peripapillary chorioretinal atrophy is evident and shows progression over a significant period despite improving the PCT.[ncbi.nlm.nih.gov] DNA analysis from the patient's peripheral blood cells revealed no mutation of the uroporphyrinogen decarboxylase gene or the hemochromatosis gene.[ci.nii.ac.jp] […] in the uroporphyrinogen decarboxylase gene.[link.springer.com]

  • Hepatoerythropoietic Porphyria

    The disease is caused by homoallelism or heteroallelism for mutations in the UROD gene.[ncbi.nlm.nih.gov] Summary Background Hepatoerythropoietic porphyria (HEP) is a rare form of porphyria that results from a deficiency of uroporphyrinogen decarboxylase (UROD).[dx.doi.org] We describe 2 new unrelated patients with familial porphyria cutanea tarda (f-PCT) who harbored a G281E mutation (GGG GAG, codon 281) in the uroporphyrinogen decarboxylase[jamanetwork.com]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Hemochromatosis

    The condition is often sporadic but can be due to a deficiency of the enzyme uroporphyrinogen decarboxylase caused by autosomal dominant mutation in the gene.[clinicaladvisor.com]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Pigmented Paravenous Retinochoroidal Atrophy

    ) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes[orpha.net] atrophy: pericentral pigmentary retinopathy, helicoid peripapillary chorioretinal degeneration, serpiginous choroidopathy, gyrate atrophy chorioderemia, sarcoidosis, syphilis[eyewiki.org] . • Case 1 shows the progression of a patient with high myopia and pathologic chorioretinal atrophy.[reviewofoptometry.com]

    Missing: Mutation in the Uroporphyrinogen Decarboxylase Gene
  • Porphyria

    HEP is an autosomal recessive disease caused by mutations in the gene responsible for PCT, the uroporphyrinogen decarboxylase gene (UROD), located at 1p34.[healthofchildren.com] decarboxylase, cytoplasmic, UROD gene) Hepatoerythropoietic porphyria (HEP) caused by biallelic UROD gene mutations (homozygous recessive; extremely rare) Variegate porphyria[unboundmedicine.com] Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study. Dermatology. 2009. 218(1):15-21. [Medline].[emedicine.medscape.com]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Erythropoietic Coproporphyria

    HEP is an autosomal recessive disease caused by mutations in the gene responsible for PCT, the uroporphyrinogen decarboxylase gene (UROD), located at 1p34.[healthofchildren.com] HEP is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase, due to the inheritance of mutations in both copies of a person’s URO-decarboxylase genes.[rarediseasesnetwork.org] Porphyria cutanea tarda PCT is a hepatocutaneous porphyria caused by reduced activity of uroporphyrinogen decarboxylase (UROD) (see Fig. 1).[medicaljournals.se]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Hereditary Coproporphyria

    HEP is an autosomal recessive disease caused by mutations in the gene responsible for PCT, the uroporphyrinogen decarboxylase gene (UROD), located at 1p34.[healthofchildren.com] A number of mutations of the uroporphyrinogen decarboxylase gene have been identified in type 2 disease.[123doc.org] HEP is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase, due to the inheritance of mutations in both copies of a person’s URO-decarboxylase genes.[rarediseasesnetwork.org]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Retinitis Pigmentosa 27
    Missing: Mutation in the Uroporphyrinogen Decarboxylase Gene
  • Variegate Porphyria

    HEP is an autosomal recessive disease caused by mutations in the gene responsible for PCT, the uroporphyrinogen decarboxylase gene (UROD), located at 1p34.[healthofchildren.com] Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.[emedicine.medscape.com] HEP is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase, due to the inheritance of mutations in both copies of a person’s URO-decarboxylase genes.[rarediseasesnetwork.org]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Erythropoietic Porphyria

    decarboxylase, cytoplasmic, UROD gene) Hepatoerythropoietic porphyria (HEP) caused by biallelic UROD gene mutations (homozygous recessive; extremely rare) Variegate porphyria[unboundmedicine.com] HEP is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase, due to the inheritance of mutations in both copies of a person’s URO-decarboxylase genes.[rarediseasesnetwork.org] Chronic; 75% of cases acquired (type 1), whereas 25% of cases familial (type 2) Type 2: autosomal dominant inheritance but low clinical penetrance Deficient enzyme: no. 5 (uroporphyrinogen[unboundmedicine.com]

    Missing: Progressive Peripapillary Chorioretinal Atrophy

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